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Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
J C Jen, J Wan, T P Palos, B D Howard, R W Baloh. Neurology 2005
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Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
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Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
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Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
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Mutations in EFHC1 cause juvenile myoclonic epilepsy.
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Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse.
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A novel locus for episodic ataxia:UBR4 the likely candidate.
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A new episodic ataxia syndrome with linkage to chromosome 19q13.
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Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias.
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GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
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Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
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Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
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A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.
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A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
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An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
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Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy.
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Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
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Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
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Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
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Direct interaction with a nuclear protein and regulation of gene silencing by a variant of the Ca2+-channel beta 4 subunit.
H Hibino, R Pironkova, O Onwumere, M Rousset, P Charnet, A J Hudspeth, F Lesage. Proc Natl Acad Sci U S A 2003
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BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy.
Deb K Pal, Oleg V Evgrafov, Paula Tabares, Fengli Zhang, Martina Durner, David A Greenberg. Am J Hum Genet 2003
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SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
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Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.
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Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
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High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
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Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations.
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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
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The Ca2+ channel beta4c subunit interacts with heterochromatin protein 1 via a PXVXL binding motif.
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Association between genetic variation of CACNA1H and childhood absence epilepsy.
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Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.
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A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
Karine Choquet, Roberta La Piana, Bernard Brais. Neurogenetics 2015
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A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
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Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine.
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A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
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Activity and calcium regulate nuclear targeting of the calcium channel beta4b subunit in nerve and muscle cells.
Prakash Subramanyam, Gerald J Obermair, Sabine Baumgartner, Mathias Gebhart, Jörg Striessnig, Walter A Kaufmann, Stephan Geley, Bernhard E Flucher. Channels (Austin) 2009
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Auxiliary subunits: essential components of the voltage-gated calcium channel complex.
Jyothi Arikkath, Kevin P Campbell. Curr Opin Neurobiol 2003
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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
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Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
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Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
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Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2.
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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
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Nuclear life of the voltage-gated Cacnb4 subunit and its role in gene transcription regulation.
Michel Ronjat, Shigeki Kiyonaka, Maud Barbado, Michel De Waard, Yasuo Mori. Channels (Austin) 2013
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Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Steffen Syrbe, Ulrike B S Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Rikke S Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S Caglayan,[...]. Nat Genet 2015
Steffen Syrbe, Ulrike B S Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Rikke S Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S Caglayan,[...]. Nat Genet 2015
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Hereditary myokymia and periodic ataxia.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.